Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample NEFM 4741 broad.mit.edu 37 8 24775449 24775449 + Missense_Mutation SNP C C A TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr8:24775449C>A ENST00000221166.5 + 3 2863 c.2081C>A c.(2080-2082)gCa>gAa p.A694E NEFM_ENST00000437366.2_Missense_Mutation_p.A655E|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.A318E|NEFM_ENST00000518131.1_Intron P07197 NFM_HUMAN neurofilament, medium polypeptide 694 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) aagtcaaaagcagaagtgggg 0.448 3 55 --- --- --- --- FZD3 7976 broad.mit.edu 37 8 28385111 28385111 + Silent SNP A A T TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr8:28385111A>T ENST00000240093.3 + 5 1312 c.834A>T c.(832-834)acA>acT p.T278T FZD3_ENST00000537916.1_Silent_p.T278T NM_017412.3 NP_059108.1 Q9NPG1 FZD3_HUMAN frizzled family receptor 3 278 canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding p.T278T(1) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1) 41 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) CCACAGTGACACAAGGATCTC 0.388 9 206 --- --- --- --- CLVS1 157807 broad.mit.edu 37 8 62212651 62212651 + Missense_Mutation SNP G G T TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr8:62212651G>T ENST00000519846.1 + 3 737 c.265G>T c.(265-267)Gat>Tat p.D89Y CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.D89Y Q8IUQ0 CLVS1_HUMAN clavesin 1 89 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.D89Y(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TCACCAAGCGGATGCCTTTAG 0.483 5 91 --- --- --- --- ZFPM2 23414 broad.mit.edu 37 8 106814115 106814115 + Missense_Mutation SNP C C T TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr8:106814115C>T ENST00000407775.2 + 8 2055 c.1805C>T c.(1804-1806)aCc>aTc p.T602I RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T333I|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 602 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.T602I(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ACTGGCCAAACCTCCATAAAC 0.458 16 179 --- --- --- --- USP20 10868 broad.mit.edu 37 9 132641857 132641857 + Missense_Mutation SNP C C T TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr9:132641857C>T ENST00000315480.4 + 24 2676 c.2518C>T c.(2518-2520)Ccc>Tcc p.P840S USP20_ENST00000472108.1_3'UTR|USP20_ENST00000358355.1_Missense_Mutation_p.P840S|USP20_ENST00000372429.3_Missense_Mutation_p.P840S Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 840 DUSP 2. endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) TGCAGAGCCCCCCGGGCCCAT 0.662 5 81 --- --- --- --- ACBD7 414149 broad.mit.edu 37 10 15120540 15120540 + Missense_Mutation SNP A A C TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr10:15120540A>C ENST00000356189.5 - 4 303 c.256T>G c.(256-258)Tac>Gac p.Y86D ACBD7_ENST00000496890.1_5'UTR NM_001039844.2 NP_001034933.1 Q8N6N7 ACBD7_HUMAN acyl-CoA binding domain containing 7 86 ACB. fatty-acyl-CoA binding p.Y86D(1) endometrium(1)|lung(4)|prostate(1) 6 TAAATTCCGTATTTTTCTATC 0.393 20 212 --- --- --- --- RAG1 5896 broad.mit.edu 37 11 36597450 36597450 + Missense_Mutation SNP G G A TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr11:36597450G>A ENST00000299440.5 + 2 2708 c.2596G>A c.(2596-2598)Gtg>Atg p.V866M NM_000448.2 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 866 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.V866M(2) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) CAAAGAGACTGTGGATGCAGT 0.493 Familial Hemophagocytic Lymphohistiocytosis 8 116 --- --- --- --- ACAP1 9744 broad.mit.edu 37 17 7240074 7240074 + Silent SNP C C T TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr17:7240074C>T ENST00000158762.3 + 1 227 c.21C>T c.(19-21)ttC>ttT p.F7F NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 7 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 AGCTGGATTTCGAGGAGTGTC 0.612 4 107 --- --- --- --- TOP2A 7153 broad.mit.edu 37 17 38564345 38564345 + Missense_Mutation SNP G G C TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr17:38564345G>C ENST00000423485.1 - 12 1532 c.1374C>G c.(1372-1374)atC>atG p.I458M NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 458 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) CCTCAGTCAGGATAAGCGTAC 0.393 4 85 --- --- --- ---